Baby has to lose her skull to live

BEAUTIFUL baby Lucia has only one chance for a normal life - to have her skull removed so it doesn't crush her brain.

Because Lucia, or Lucy for short, has a rare disorder called craniosynostosis, which means her brain is distorting her head as it is being crushed by her skull.

The birth defect, which affects one in 2500 babies, fuses the plates in the brain, called cranial sutures, which are meant expand as the baby's brain grows. Most babies have 45 bones that shift and eventually join together once the child has grown.

Lucy was diagnosed with the birth defect shortly after she was born.

But the bones in Lucy's head won't move, forcing her brain outward at the forehead and back, giving her head a bullet shape.

The only fix is drastic surgery where the skull is cut open like a fan.

"Lucy will undergo a 'Cranial Vault Remodel' where the top of her skull will be removed, cut up, reconstructed and repositioned to allow room for her brain to grow and to give her a more natural-looking head. It's massive, the surgery and it will take about five hours. She will also need a transfusion because there is a lot of blood loss," mother Julie Akmacic said.

A scan of Lucy’s skull.

Ms Akmacic knew there was something amiss as soon as Lucy was born. She and husband Peter Deerson thought her head was a football shape.

Despite being reassured by several medical experts, her instincts told her to push for answers.

"It took a few weeks to see the paediatrician but I am so glad we did. She looked at Lucy's head and booked her straight in for a CAT scan - the only accurate way to show fused bone sutures and therefore diagnosed craniosynostosis," Ms Akmacic said.

Lucy’s brain is being crushed by her skull and she needs an operation.

The Canberra-based family sought out the expertise of Professor David David from the Australian Craniofacial Unit in Adelaide. The unit is only one of two in the world that specialises in craniosynostosis. It operates on one child a week on average.

"Craniosynostosis is a premature fusing of the skull sutures and because a baby's brain grows very rapidly in the first year of life, it distorts the skull so you get facial deformity. Last week Lucy underwent her assessments and will now face major surgery to correct her skull," Prof David said.

Using a fan-like approach, Prof David said the skull can be remodelled.

Julie Akmacic with her daughter Lucy, who suffers from craniosynostosis. Picture: Matt Turner

"The shape of the skull is like an upturned boat (with craniosynotosis) so what we do is reshape the front and the back and the sides of the skull. The front goes back, the back goes forward and we expand the sides out and the brain grows beautifully and rapidly," Prof David said.

At the moment, Lucy is nothing short of adorable but, if the defect is left untreated, it could affect mental ability from the pressure on the brain. Her physical appearance will also worsen over time.

"It's terrifying, but if we don't we are looking at a brain that will grow in a bullet shape and she will look deformed as her forehead continues to protrude and her face will distort. She may be teased and made fun of and that will could have a significant mental health impact, so we don't really have a choice," Ms Akmacic said.